Rotational vertebrobasilar insufficiency, or bow hunter's syndrome, is a rare cause of posterior circulation ischemia, which, following rotation of the head, results in episodic vertigo, dizziness, nystagmus, or syncope. While typically caused by dynamic occlusion of the vertebral artery in its V2 and V3 segments, the authors here describe a patient with dynamic occlusion of the vertebral artery secondary to a persistent first intersegmental artery, a rare variant course of the vertebral artery. In this case the vertebral artery coursed under rather than over the posterior arch of the C-1. This patient was also found to have incomplete development of the posterior arch of C-1, as is often seen with this variant. The patient underwent dynamic digital subtraction angiography, which demonstrated occlusion at the variant vertebral artery with head turning. He was then taken for decompression of the vertebral artery through removal of the incomplete arch of C-1 that was causing the dynamic compression. After surgery the patient had a complete resolution of symptoms. In this report, the authors present the details of this case, describe the anatomical variants involved, and provide a discussion regarding the need for atlantoaxial fusion in these patients.
Vivek P. Buch, Peter J. Madsen, Kerry A. Vaughan, Paul F. Koch, David K. Kung and Ali K. Ozturk
Peter J. Madsen, Shih-Shan Lang, Jared M. Pisapia, Phillip B. Storm, Robert W. Hurst and Gregory G. Heuer
Pial arteriovenous fistulas (PAVFs) are a rare form of cerebrovascular disease that tend to be overrepresented in the pediatric population. There have been limited studies of the clinical features and outcomes in this group of patients. Here, the authors attempt to better delineate this clinical entity with institutional cases and a review of the literature.
A retrospective review of cases at our institution was performed to identify all pediatric patients treated for a PAVF between 2000 and 2012.
Five patients treated for a PAVF were identified. Patients had a mean age of 1.9 years at diagnosis, and the most common presenting symptoms were seizure and macrocephaly. Patients were treated primarily with embolization, and 3 patients required both N-butyl cyanoacrylate (NBCA) glue and coiling. Four of the patients had complete obliteration of the PAVF and had a pediatric overall performance category score of either 1 (n = 3) or 2 (n = 1) at follow-up. There was 1 death due to heart failure. Analysis of the literature review suggested that a younger age or presence of intracerebral hemorrhage (ICH) or congestive heart failure (CHF) at presentation likely predicts a worse prognosis. Older patients presented more often with ICH, whereas younger patients presented significantly more often in CHF. The majority of pediatric patients reported on in the literature were treated with endovascular embolization, most commonly with NBCA glue alone. Most patients (65.4%) in the literature had an excellent outcome without neurological deficit.
Pial AVFs represent a serious yet rare form of cerebrovascular disease. Pediatric patients with ICH or CHF at presentation or those who are very young are likely to have a worse prognosis. Endovascular management of these patients has greatly changed the natural history of this disease, but the complication and mortality rates suggest the need for continued insights and advances in treatment.
James H. Stephen, Angela J. Sievert, Peter J. Madsen, Alexander R. Judkins, Adam C. Resnick, Phillip B. Storm, Elisabeth J. Rushing and Mariarita Santi
Primary spinal cord ependymomas (EPNs) are rare in children, comprising classical WHO Grade II and III tumors and Grade I myxopapillary ependymomas (MEPNs). Despite their benign histology, recurrences and neural-axis dissemination have been reported in up to 33% MEPNs in the pediatric population. Treatment options beyond resection are limited, and little is known about their tumorigenesis. The purpose of this study was to explore the tumor biology and outcomes in a consecutive series of pediatric patients treated at a single institution.
The authors performed a retrospective clinicopathological review of 19 patients at a tertiary referral children's hospital for resection of a spinal cord ependymoma. The population included 8 patients with a pathological diagnosis of MEPN and 11 patients with a pathological diagnosis of spinal EPN (10 cases were Grade II and 1 case was Grade III). The upregulation of the following genes HOXB13, NEFL, PDGFRα, EGFR, EPHB3, AQP1, and JAGGED 1 was studied by immunohistochemistry from archived paraffin-embedded tumor samples of the entire cohort to compare the expression in MEPN versus EPN.
Gross-total resection was achieved in 75% of patients presenting with MEPNs and in 100% of those with EPNs. The average follow-up period was 79 months for the MEPN subset and 53 months for Grade II/III EPNs. Overall survival for both subsets was 100%. However, event-free survival was only 50% for patients with MEPNs. Of note, in all cases involving MEPNs that recurred, the patients had undergone gross-total resection on initial surgery. In contrast, there were no tumor recurrences in patients with EPNs. Immunohistochemistry revealed no significant differences in protein expression between the two tumor types with the exception of EPHB3, which demonstrates a tendency to be positive in MEPNs (6 reactive tumors of 9) rather than in EPN (2 reactive tumors of 10).
The authors' experience shows that, following a gross-total resection, MEPNs are more likely to recur than their higher-grade counterpart, EPNs. This supports the recommendation for close long-term radiological follow-up of pediatric patients with MEPNs to monitor for recurrence, despite the tumor's low-grade histological feature. No significant difference in the protein expression of HOXB13, NEFL, PDGFRα, EGFR, EPHB3, AQP1, and JAGGED 1 was present in this selected cohort of pediatric patients.
A. Aria Tzika, Leo Ling Cheng, Liliana Goumnerova, Joseph R. Madsen, David Zurakowski, Loukas G. Astrakas, Maria K. Zarifi, R. Michael Scott, Douglas C. Anthony, R. Gilberto Gonzalez and Peter McL. Black
Object. Magnetic resonance (MR) spectroscopy provides biochemical information about tumors. The authors sought to determine the relationship between in vivo and ex vivo biochemical characterization of pediatric brain tumors by using MR spectroscopy. Their hypothesis was that ex vivo MR spectroscopy provides a link between in vivo MR spectroscopy and neuropathological analysis.
Methods. In vivo proton MR spectroscopy was performed before surgery in 11 patients with neuroepithelial tumors. During resection, a total of 40 tumor biopsy samples were obtained from within the volume of interest identified on in vivo MR spectroscopy and were frozen immediately in liquid nitrogen. High-Resolution Magic Angle Spinning (HRMAS) was used to perform ex vivo MR spectroscopy in these 40 tumor biopsy samples. Neuropathological analysis was performed using the same biopsy samples, and the tumors were classified as ependymoma, choroid plexus carcinoma, pineoblastoma (one each), and pilocytic astrocytoma, medullobastoma, low-grade glioma, and glioblastoma multiforme (two each).
Ex vivo HRMAS MR spectroscopy improved line widths and line shapes in the spectra, compared with in vivo MR spectroscopy. Choline (Cho) detected in vivo corresponded to three different peaks ex vivo (glycerophosphocholine, phosphocholine [PCho], and Cho). Metabolite ratios from in vivo spectra correlated with ratios from ex vivo spectra (Pearson correlation coefficient range r = 0.72–0.91; p ≤ 0.01). Metabolite ratios from ex vivo spectra, such as PCho/total creatine (tCr) and lipid/tCr, correlated with the percentage of cancerous tissue and percentage of tumor necrosis, respectively (r = 0.84; p ≤ 0.001).
Conclusions. Agreement between in vivo and ex vivo MR spectroscopy indicates that ex vivo HRMAS MR spectroscopy can improve resolution of this modality and provide a link between in vivo MR spectroscopy and neuropathological analysis.
Peter J. Madsen, Vivek P. Buch, Jennifer E. Douglas, Arjun K. Parasher, David K. Lerner, Erin Alexander, Alan D. Workman, James N. Palmer, Shih-Shan Lang, Benjamin C. Kennedy, Arastoo Vossough, Nithin D. Adappa and Phillip B. Storm
Craniopharyngioma represents up to 10% of pediatric brain tumors. Although these lesions are benign, attempts at gross-total resection (GTR) can lead to serious complications. More conservative approaches have emerged but require adjuvant radiation. Endoscopic endonasal surgery (EES) aimed at GTR has the potential to result in fewer complications, but there has been limited comparison to open surgery. The authors performed a review of these two approaches within their institution to elucidate potential benefits and complication differences.
The authors performed a retrospective review of pediatric patients undergoing resection of craniopharyngioma at their institution between 2001 and 2017. Volumetric analysis of tumor size and postoperative ischemic injury was performed. Charts were reviewed for a number of outcome measures.
A total of 43 patients with an average age of 8.2 years were identified. Open surgery was the initial intervention in 15 and EES in 28. EES was performed in patients 3–17 years of age. EES has been the only approach used since 2011. In the entire cohort, GTR was more common in the EES group (85.7% vs 53.3%, p = 0.03). Recurrence rate (40% vs 14.2%, p = 0.13) and need for adjuvant radiation (20.0% vs 10.7%, p = 0.71) were higher in the open surgical group, although not statistically significant. Pseudoaneurysm development was only observed in the open surgical group. Volumetric imaging analysis showed a trend toward larger preoperative tumor volumes in the open surgical group, so a matched cohort analysis was performed with the largest tumors from the EES group. This revealed no difference in residual tumor volume (p = 0.28), but the volume of postoperative ischemia was still significantly larger in the open group (p = 0.004). Postoperative weight gain was more common in the open surgical group, a statistically significant finding in the complete patient group that trended toward significance in the matched cohort groups. Body mass index at follow-up correlated with volume of ischemic injury in regression analysis of the complete patient cohort (p = 0.05).
EES was associated with similar, if not better, extent of resection and significantly less ischemic injury than open surgery. Pseudoaneurysms were only seen in the open surgical group. Weight gain was also less prevalent in the EES cohort and appears be correlated with extent of ischemic injury at time of surgery.